Yorifuji T - Search Results

1

Clinical features and management of organic acidemias in Japan.

Fujisawa D, Nakamura K, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Fujisawa D, et al. Among authors: yorifuji t. J Hum Genet. 2013 Dec;58(12):769-74. doi: 10.1038/jhg.2013.97. Epub 2013 Sep 26. J Hum Genet. 2013. PMID: 24067294

2

X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.

Yorifuji T, Muroi J, Uematsu A, Tanaka K, Kiwaki K, Endo F, Matsuda I, Nagasaka H, Furusho K. Yorifuji T, et al. Clin Genet. 1998 Oct;54(4):349-53. doi: 10.1034/j.1399-0004.1998.5440415.x. Clin Genet. 1998. PMID: 9831349

3

Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.

Muroi J, Yorifuji T, Uematsu A, Shigematsu Y, Onigata K, Maruyama H, Nobutoki T, Kitamura A, Nakahata T. Muroi J, et al. Among authors: yorifuji t. Hum Genet. 2000 Oct;107(4):320-6. doi: 10.1007/s004390000363. Hum Genet. 2000. PMID: 11129331

4

Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples.

Kuhara T, Ohse M, Inoue Y, Yorifuji T, Sakura N, Mitsubuchi H, Endo F, Ishimatu J. Kuhara T, et al. Among authors: yorifuji t. J Inherit Metab Dis. 2002 May;25(2):98-106. doi: 10.1023/a:1015620609075. J Inherit Metab Dis. 2002. PMID: 12118533

5

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.

Yorifuji T, Kawai M, Muroi J, Mamada M, Kurokawa K, Shigematsu Y, Hirano S, Sakura N, Yoshida I, Kuhara T, Endo F, Mitsubuchi H, Nakahata T. Yorifuji T, et al. Hum Genet. 2002 Aug;111(2):161-5. doi: 10.1007/s00439-002-0761-z. Epub 2002 Jul 4. Hum Genet. 2002. PMID: 12189489

6

Living-donor liver transplantation for propionic acidaemia.

Yorifuji T, Kawai M, Mamada M, Kurokawa K, Egawa H, Shigematsu Y, Kohno Y, Tanaka K, Nakahata T. Yorifuji T, et al. J Inherit Metab Dis. 2004;27(2):205-10. doi: 10.1023/B:BOLI.0000028778.54210.13. J Inherit Metab Dis. 2004. PMID: 15159651

7

Nitric oxide synthesis in ornithine transcarbamylase deficiency: possible involvement of low no synthesis in clinical manifestations of urea cycle defect.

Nagasaka H, Komatsu H, Ohura T, Sogo T, Inui A, Yorifuji T, Murayama K, Takayanagi M, Kikuta H, Kobayashi K. Nagasaka H, et al. Among authors: yorifuji t. J Pediatr. 2004 Aug;145(2):259-62. doi: 10.1016/j.jpeds.2004.05.033. J Pediatr. 2004. PMID: 15289781

8

Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency.

Tamamori A, Fujimoto A, Okano Y, Kobayashi K, Saheki T, Tagami Y, Takei H, Shigematsu Y, Hata I, Ozaki H, Tokuhara D, Nishimura Y, Yorifuji T, Igarashi N, Ohura T, Shimizu T, Inui K, Sakai N, Abukawa D, Miyakawa T, Matsumori M, Ban K, Kaneko H, Yamano T. Tamamori A, et al. Among authors: yorifuji t. Pediatr Res. 2004 Oct;56(4):608-14. doi: 10.1203/01.PDR.0000139713.64264.BC. Epub 2004 Aug 4. Pediatr Res. 2004. PMID: 15295082

9

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T. Kurokawa K, et al. Among authors: yorifuji t. J Hum Genet. 2007;52(4):349-354. doi: 10.1007/s10038-007-0122-9. Epub 2007 Feb 20. J Hum Genet. 2007. PMID: 17310273

10

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N. Otomo T, et al. Among authors: yorifuji t. J Hum Genet. 2009 Mar;54(3):145-51. doi: 10.1038/jhg.2009.3. Epub 2009 Feb 6. J Hum Genet. 2009. PMID: 19197337

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